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Pediatrics - Cardiology

Houston, Texas

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Pediatrics - Cardiology
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BMPR2 Mutation Analysis

BMPR2 gene, a member of the transforming growth factor (TGF)-β superfamily of transmembrane serine/threonine kinase receptors, contains 13 exons spanning over 180 kb of genomic distance that was mapped to chromosome 2q31-32. The mature BMPR2 protein harbors four discrete functional domains: an extracellular ligand-binding domain encoded by exons 1-3, a transmembrane domain generated by exon 4, a serine-threonine kinase domain from exons 5-11 and a very large intracellular C-terminal domain of unknown function from exons 12 and 13, which presents only in BMPR2 within the TGF-β receptor superfamily. In common with other TGF-β receptors, BMPR2 transduces signals by forming heterodimers at the cell surface with a corresponding type I BMP receptor (BMPR1A and BMPR1B). Germline mutations in the BMPR2 gene were identified in at least 50 percent of familial cases and as many as 40 percent of sporadic cases of patients with pulmonary arterial hypertension (PAH).

The John Welsh Cardiovascular Diagnostic Laboratory offers molecular genetic testing for BMPR2 mutations. Individuals are tested by automatic fluorescent DNA sequencing of the coding exons of the BMPR2 gene. We strongly recommend initial testing of a clearly affected individual, if available, in order to provide the greatest test sensitivity and clearest interpretation of results for subsequent family members. Genetic counseling is recommended for all individuals.

Reasons for Referral

Molecular confirmation of the diagnosis of pulmonary arterial hypertension (PAH).


Genomic DNA is analyzed for BMPR2 mutations by automatic fluorescent DNA sequencing of the coding exons of the BMPR2 gene, as well as the exon/intron junctions and a portion of the 3' untranslated region. Patient DNA is sequenced in both the forward and reverse orientations. If a mutation is identified, additional family members are analyzed only for the familial mutation by automatic fluorescent DNA sequencing.

Service Fees

Service Direct and Institutional Billing CPT Codes
Index Case (Male or Female) $800 per sample 81406, G0452
Additional Family Members $300 per sample; known familial mutation only 81403, G0452


DNA Sequencing Analysis: Approximately 99 percent detection of mutations in the coding exons of BMPR2

Specimen Requirements

Blood (preferred): EDTA (purple-top) tubes: Adult: 5 cc, Child: 5 cc, Infant: 2-3 cc
Tissue: Frozen (preferred), RNAlater, Formalin-fixed, Paraffin-embedded
Other Body Fluids: Call to inquire
Buccal Swabs: One swab from each cheek

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